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CDSN (corneodesmosin)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1041
Gene nameGene Name - the full gene name approved by the HGNC.
Corneodesmosin
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CDSN
SynonymsGene synonyms aliases
HTSS, HTSS1, HYPT2, PSS, PSS1
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human pop
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT882617 hsa-miR-1 CLIP-seq
MIRT882618 hsa-miR-1208 CLIP-seq
MIRT882619 hsa-miR-1245b-3p CLIP-seq
MIRT882620 hsa-miR-206 CLIP-seq
MIRT882621 hsa-miR-3125 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IDA 9395522
GO:0001533 Component Cornified envelope TAS
GO:0003336 Process Corneocyte desquamation IMP 26014679
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q15517
Protein name Corneodesmosin (S protein)
Protein function Important for the epidermal barrier integrity.
Family and domains
Sequence
MGSSRAPWMGRVGGHGMMALLLAGLLLPGTLAKSIGTFSDPCKDPTRITSPNDPCLTGKG
DSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSG
SGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSSFQFSSSSFQVGNGSALPTND
NSYRGILNPSQPGQSSSSSQTSGVSSSGQSVSSNQRPCSSDIPDSPCSGGPIVSHSGPYI
PSSHSVSGGQRPVVVVVDQHGSGAPGVVQGPPCSNGGLPGKPCPPITSVDKSYGGYEVVG
GSSDSYLVPGMTYSKGKIYPVGYFTKENPVKGSPGVPSFAAGPPISEGKYFSSNPIIPSQ
SAASSAIAFQPVGTGGVQLCGGGSTGSKGPCSPSSSRVPSSSSISSSSGSPYHPCGSASQ
SPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGGPDGSPHPDPS
AGAKPCGSSSAGKIPCRSIRDILAQVKPLGPQLADPEVFLPQGELLDSP
Sequence length 529
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Formation of the cornified envelope
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 27611488
Behcet syndrome Behcet Syndrome rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741 23001997
Hypotrichosis simplex Hypotrichosis Simplex of Scalp rs121913026, rs201249971 12754508, 22875505
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 17660530
Unknown
Disease name Disease term dbSNP ID References
Dwarfism Dwarfism
Graves disease Graves Disease 21900946
Hypotrichosis simplex of the scalp Hypotrichosis simplex of the scalp
Onycholysis Onycholysis

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